Unilateral cerebellar hypoplasia

Case contributed by Aya Sedky
Diagnosis almost certain

Presentation

The patient has eye contact abnormalities, delayed milestones.

Patient Data

Age: 2 years
Gender: Female
This study is a stack
Axial
T2
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Sagittal
T2
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Axial
FLAIR
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Axial
T1
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Axial
DWI
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Axial
ADC
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Coronal
T2
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Axial
SWI mIP
This study is a stack
Axial SWI
phase
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Info

Absent (aplastic) right cerebellar hemisphere, right cerebellar vermis, and to a lesser extent right middle cerebellar peduncle.

An extra-axial large cystic lesion communicating with the fourth ventricle showing internal septa and ferromagnetic blooming artifact (likely due to hemosiderin deposition) is seen in place. It crosses the midline extending to the left side retro-cerebellar region.

Relatively thinned out corpus callosum (posterior portion of the body and splenium).

Relative flattening of the left posterior aspect of the midbrain.

Case Discussion

Cerebellar hypoplasia can be classified into two categories: focal and generalized. Focal hypoplasia is further divided into isolated vermian hypoplasia and hypoplasia of one cerebellar hemisphere.

Patients with unilateral cerebellar hypoplasia may be asymptomatic, or they may present with symptoms such as cerebellar dysfunction, headaches, or, in rare cases, seizures.

This condition's underlying cause may be a vascular insult that occurs during the intrauterine or perinatal period. As a result, there may be hypoplasia or aplasia of the cerebellar or vertebral arteries in these cases.

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